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Atxn3
Gene Detail
 Symbol
Name
ID
Atxn3
ataxin 3
MGI:1099442
Synonyms 2210008M02Rik, ataxin-3, Atx3, Mjd, MJD1, Sca3
Feature Type protein coding gene
Genetic Map
Chromosome 12
51.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr12:101918901-101958246 bp, - strand
From VEGA annotation of GRCm38

  39346 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3658  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Atxn3

Human
homologs
Human Homolog ATXN3, ataxin 3
NCBI Gene ID 4287
neXtProt AC  NX_P54252
Human Synonyms  AT3, ATX3, JOS, MJD, MJD1, SCA3
Human Chr (Location)  14q21; chr14:92058552-92106621 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ATXN3
Mutations,
alleles, and
phenotypes
All mutations/alleles(39) : Gene trapped(34) Targeted(5)
Incidental mutations (data from APF )
 
Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker.
 
Interactions
Atxn3 interacts with 410 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (40 annotations)
Process actin cytoskeleton organization, cellular response to heat, ...
Component cytoplasm, cytosol, ...
Function ATPase binding, cysteine-type peptidase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (91)    Tissues (77)    Images (10)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 26, 28
Assay TypeResults
Immunohistochemistry 77
RNA in situ 1
Western blot 13
cDNA source data(79)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(79) cDNA(79)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000030696 (Evidence)
Ensembl Gene ModelENSMUSG00000021189 (Evidence)
Entrez Gene110616 (Evidence)
UniGene271914
DFCITC1583694, TC1637845, TC1642487
DoTSDT.101374029, DT.60104555
NIA Mouse Gene IndexU034277
EC3.4.19.12
Consensus CDS ProjectCCDS26115.1, CCDS49144.1
International Mouse Knockout Project StatusAtxn3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030696 VEGA Gene Model | MGI Sequence Detail 39346 C57BL/6J ±  kb
transcript OTTMUST00000075997 VEGA | MGI Sequence Detail 5363 Not Applicable 
polypeptide OTTMUSP00000039935 VEGA | MGI Sequence Detail 355 Not Applicable 

For the selected sequences
All sequences(63) RefSeq(14) UniProt(7)
Polymorphisms SNPs within 2kb(265 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006155 Machado-Joseph disease protein MJD
InterPro IPR003903 Ubiquitin interacting motif
Protein Ontology PR:000004507 ataxin-3
References (Earliest) J:43214 Kawaguchi Y, et al., CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet. 1994 Nov;8(3):221-8
(Latest) J:195850 Nobrega C, et al., Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice. PLoS One. 2013;8(1):e52396
All references(68)
Other
accession IDs
MGI:1923952, MGI:2144838, MGI:2144872

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory